Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2

Patients with deletions in chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.38 Mb heterozygous deletion in 9q31.2. The deletion breakpoints (determined with whole genome linked-read sequencing) were in the FKTN gene (9:108,331,353) and in a non-coding area (9:110,707,332) (hg19). The deletion encompassed six protein-coding genes (FKTN, ZNF462, TAL2, TMEM38B, RAD23B, and KLF4). ZNF462 haploinsufficiency was consistent with patient’s Weiss-Kruszka syndrome (craniofacial phenotype, developmental delay, and sensorineural hearing loss), but did not explain his KS. In further analyses, he did not carry rare sequence variants in 32 known KS genes in whole exome sequencing and displayed no aberrant splicing of 15 KS genes that were expressed in peripheral blood leukocyte transcriptome. The deletion was 1.8 Mb upstream of a KS candidate gene locus (PALM2AKAP2), but did not suppress its expression. In conclusion, this is the first report of a patient with Weiss-Kruszka syndrome and KS. We suggest that patients carrying a microdeletion in 9q31.2 should be evaluated for the presence of KS and KS-related features.

Single Nucleotide Polymorphism of CDC37, AHSA1 and STIP1 Gene in Three Cattle Breeds using SNaPshot Technology

Background: Heat stress in domestic animals has become a major limit factor for livestock production in tropical and subtropical regions. These traits that adapt to torrid environment are important in livestock breeding.Methods: In this study, we identified and genotyped six Single nucleotide polymorphism for the CDC37, AHSA1 and STIP1 gene in the Droughtmaster, Angus and Simmental cattle breeds using the SNaPshot Multiplex system. Result: Result of pair-wise differences (FST) revealed three SNP locus (CDC37-6 (A16154247/G), CDC37-7 (C16157867/G), AHSA1-10 (G89722567/A) were significantly different in the Droughtmaster population than Angus and Simmental cattle breeds. Moreover, it was found that CDC37-7 (C16157867/G) locus deviated from Hardy-Weinberg equilibrium, suggesting that the CDC37-7 (C16157867/G) genes have been influenced by the selective breeding of the Droughtmaster breed. Therefore, CDC37-7 (C16157867/G) locus could be used as a marker-assisted candidate gene locus of heat tolerance. This study provides valuable information, concerning marker-assisted selection in the breeding of heat stress resistant cattle.

Genotyping-by-Sequencing of Gossypium hirsutum Races and Cultivars Uncovers Novel Patterns of Genetic Relationships and Domestication Footprints

Determining the genetic rearrangement and domestication footprints in Gossypium hirsutum cultivars and primitive race genotypes are essential for effective gene conservation efforts and the development of advanced breeding molecular markers for marker-assisted breeding. In this study, 94 accessions representing the 7 primitive races of G hirsutum, along with 9 G hirsutum and 12 Gossypium barbadense cultivated accessions were evaluated. The genotyping-by-sequencing (GBS) approach was employed and 146 558 single nucleotide polymorphisms (SNP) were generated. Distinct SNP signatures were identified through the combination of selection scans and association analyses. Phylogenetic analyses were also conducted, and we concluded that the Latifolium, Richmondi, and Marie-Galante race accessions were more genetically related to the G hirsutum cultivars and tend to cluster together. Fifty-four outlier SNP loci were identified by selection-scan analysis, and 3 SNPs were located in genes related to the processes of plant responding to stress conditions and confirmed through further genome-wide signals of marker-phenotype association analysis, which indicate a clear selection signature for such trait. These results identified useful candidate gene locus for cotton breeding programs.